Canonical Allele Identifier: CA120908714

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs998646008
• gnomAD v3: 5-74721649-A-T
• gnomAD v4: 5-74721649-A-T
• MyVariant Identifiers: chr5:g.74017474A>T (hg19) ; chr5:g.74721649A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721649A>T , CM000667.2:g.74721649A>T	GRCh38
NC_000005.9:g.74017474A>T , CM000667.1:g.74017474A>T	GRCh37
NC_000005.8:g.74053230A>T	NCBI36
NG_009770.1:g.41506A>T
NG_011531.1:g.50569T>A
NG_009770.2:g.86627A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.*6T>A (GFM2) MANE Select	ENSP00000296805.3:n.*6T>A
ENST00000296805.7:c.*6T>A (GFM2)	ENSP00000296805.3:n.*6T>A
ENST00000345239.6:c.*6T>A (GFM2)	ENSP00000296804.3:n.*6T>A
ENST00000503312.5:c.608+213A>T (HEXB)
ENST00000505859.1:c.255+213A>T (HEXB)
ENST00000509430.5:c.*6T>A (GFM2)	ENSP00000427004.1:n.*6T>A
ENST00000513867.1:n.380+213A>T (HEXB)
ENST00000515125.5:n.749T>A (GFM2)
NM_001281302.1:c.*6T>A (GFM2)	NP_001268231.1:n.*6T>A
NM_032380.4:c.*6T>A (GFM2)	NP_115756.2:n.*6T>A
NM_170691.2:c.*6T>A (GFM2)	NP_733792.1:n.*6T>A
NR_104006.1:n.2665T>A (GFM2)
XM_006714721.2:c.*6T>A (GFM2)	XP_006714784.1:n.*6T>A
XM_011543690.1:c.*6T>A (GFM2)	XP_011541992.1:n.*6T>A
XM_017009986.1:c.*6T>A (GFM2)	XP_016865475.1:n.*6T>A
XR_002956185.1:n.3632T>A (GFM2)
NM_032380.5:c.*6T>A (GFM2) MANE Select	NP_115756.2:n.*6T>A
NM_001281302.2:c.*6T>A (GFM2)	NP_001268231.1:n.*6T>A
NM_170691.3:c.*6T>A (GFM2)	NP_733792.1:n.*6T>A
NR_104006.2:n.2411T>A (GFM2)